PubMed:12746442 / 89-335 JSONTXT

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    PubTator4TogoVar

    {"project":"PubTator4TogoVar","denotations":[{"id":"12746442_0","span":{"begin":64,"end":68},"obj":"ProteinMutation"}],"attributes":[{"id":"12746442_0_ProteinMutation","pred":"proteinmutation","subj":"12746442_0","obj":"rs1357942068"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}

    sentences

    {"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":246},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":246},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}

    PubmedHPO

    {"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":171,"end":196},"obj":"HP_0003344"},{"id":"T2","span":{"begin":188,"end":196},"obj":"HP_0012072"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}

    PubCasesHPO

    {"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":171,"end":196},"obj":"HP:0003344"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}

    PubCasesORDO

    {"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":161,"end":196},"obj":"ORDO:20"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}

    mondo_disease

    {"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":161,"end":196},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0009520"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}

    HP-phenotype

    {"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":171,"end":196},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003344"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}

    NCBITAXON

    {"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":236,"end":245},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"23204"},{"id":"A2","pred":"db_id","subj":"T1","obj":"260511"}],"text":"This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina."}